Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter

Autoimmune lymphoproliferative syndrome (ALPS) is a disease characterized by dysfunction of the T lymphocyte  apoptotic pathways, mostly due to dysfunctional FAS mediated signaling. However few cases can also occur independent of FAS pathway alteration. ALPS is characterized by various immuno-hemat...

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Main Authors: Amiya Nayak, Pratyusha Gudapati, Swapnil Tripathi, Jasmita Dass, Mukul Aggarwal, Pradeep Kumar
Format: Article
Language:English
Published: Mattioli1885 2024-02-01
Series:Mediterranean Journal of Hematology and Infectious Diseases
Subjects:
Online Access:https://www.mjhid.org/mjhid/article/view/5571
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author Amiya Nayak
Pratyusha Gudapati
Swapnil Tripathi
Jasmita Dass
Mukul Aggarwal
Pradeep Kumar
author_facet Amiya Nayak
Pratyusha Gudapati
Swapnil Tripathi
Jasmita Dass
Mukul Aggarwal
Pradeep Kumar
author_sort Amiya Nayak
collection DOAJ
description Autoimmune lymphoproliferative syndrome (ALPS) is a disease characterized by dysfunction of the T lymphocyte  apoptotic pathways, mostly due to dysfunctional FAS mediated signaling. However few cases can also occur independent of FAS pathway alteration. ALPS is characterized by various immuno-hematological manifestations. Monogenic lupus is an evolving entity, which describes the etiologic role of single gene modulation in systemic lupus erythematosus. In this manuscript, we describe a case of probable ALPS with monogenic lupus caused by a novel mutation in the KRAS gene.
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spelling doaj.art-185709511c1a4ecdbbd4f5b11e61ef1d2024-04-16T07:59:25ZengMattioli1885Mediterranean Journal of Hematology and Infectious Diseases2035-30062024-02-0116110.4084/MJHID.2024.033Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter Amiya Nayak0Pratyusha Gudapati1Swapnil Tripathi2Jasmita Dass3Mukul Aggarwal4Pradeep Kumar5a:1:{s:5:"en_US";s:39:"All India Institute of Medical Sciences";}All India Institute of Medical SciencesAll India Institute of Medical SciencesAll India Institute of Medical SciencesAll India Institute of Medical SciencesAll India Institute of Medical Sciences Autoimmune lymphoproliferative syndrome (ALPS) is a disease characterized by dysfunction of the T lymphocyte  apoptotic pathways, mostly due to dysfunctional FAS mediated signaling. However few cases can also occur independent of FAS pathway alteration. ALPS is characterized by various immuno-hematological manifestations. Monogenic lupus is an evolving entity, which describes the etiologic role of single gene modulation in systemic lupus erythematosus. In this manuscript, we describe a case of probable ALPS with monogenic lupus caused by a novel mutation in the KRAS gene. https://www.mjhid.org/mjhid/article/view/5571autoimmune lymphoprolifearive syndromemonogenic lupusKRASRAS associated leukoproliferative disorder
spellingShingle Amiya Nayak
Pratyusha Gudapati
Swapnil Tripathi
Jasmita Dass
Mukul Aggarwal
Pradeep Kumar
Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter
Mediterranean Journal of Hematology and Infectious Diseases
autoimmune lymphoprolifearive syndrome
monogenic lupus
KRAS
RAS associated leukoproliferative disorder
title Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter
title_full Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter
title_fullStr Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter
title_full_unstemmed Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter
title_short Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter
title_sort probable autoimmune lymphoproliferative syndrome with monogenic lupus due to kras mutation a rare encounter
topic autoimmune lymphoprolifearive syndrome
monogenic lupus
KRAS
RAS associated leukoproliferative disorder
url https://www.mjhid.org/mjhid/article/view/5571
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AT swapniltripathi probableautoimmunelymphoproliferativesyndromewithmonogeniclupusduetokrasmutationarareencounter
AT jasmitadass probableautoimmunelymphoproliferativesyndromewithmonogeniclupusduetokrasmutationarareencounter
AT mukulaggarwal probableautoimmunelymphoproliferativesyndromewithmonogeniclupusduetokrasmutationarareencounter
AT pradeepkumar probableautoimmunelymphoproliferativesyndromewithmonogeniclupusduetokrasmutationarareencounter